[Info Series] The Genetics of Darier’s Disease: Understanding ATP2A2 Mutations and Their Implications

Darier’s disease, a rare genetic skin disorder, affects roughly 1 in 30,000 to 1 in 100,000 individuals worldwide. This condition, also known as keratosis follicularis, is characterized by small, scaly, wart-like papules, which can be reddish-brown or yellowish in color. The papules often cluster together to form larger plaques and primarily appear in seborrheic areas such as the chest, back, forehead, and scalp. Patients with Darier’s disease may also experience nail abnormalities and an unpleasant odor caused by a secondary bacterial infection.

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